12 missing letters on a gene protect against infarction and coronary heart disease. This is the discovery made during a study of the Icelandic population.
Often involved in various diseases, genetic mutations can also be beneficial. As proof, a variation found for the first time among thousands of Icelanders. Located on chromosome 17, it reduces the risk of cardiovascular pathologies. A study, published in the New England Journal of Medicine, shares this discovery.
1.5 years more life
The authors of this study analyzed the genome of 2,600 Icelanders. This work enabled them to identify a variant which is characterized by the absence of 12 bases on a gene on chromosome 17, ASGR1. They then looked for this characteristic in 400,000 other inhabitants of the island.
One in 120 Icelanders carries this genetic variation, which has been identified for the first time. These chosen few can consider themselves lucky: their cholesterol level is lower. They also live 1.5 years on average longer than people who do not have the mutation.
More vitamin B12
The main benefit of this rare genetic variation is that it reduces cardiovascular risk factors. The likelihood of having a heart attack or developing coronary heart disease is reduced by 35% in both cases.
Two key indicators are also improved: the levels of alkaline phosphatase are 50% higher. This enzyme, when present in the intestine, controls homeostasis and intestinal flora. In the liver, it allows the formation of bile. Vitamin B12 levels are also 16% higher in carriers of the mutation. It is essential for the functioning of the brain, the nervous system and the formation of blood.
This set of results prompted the Amgen lab, which funded the work, to launch research into a way to inhibit the protein connected to the ASGR1 gene. The objective would be to mimic how the mutation works.
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